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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 21-43065417-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43065417&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 43065417,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000398165.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "NM_000071.3",
"protein_id": "NP_000062.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 551,
"cds_start": 636,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": "ENST00000398165.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "ENST00000398165.8",
"protein_id": "ENSP00000381231.4",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 551,
"cds_start": 636,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": "NM_000071.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "ENST00000352178.9",
"protein_id": "ENSP00000344460.5",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 551,
"cds_start": 636,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "ENST00000359624.7",
"protein_id": "ENSP00000352643.3",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 551,
"cds_start": 636,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 2353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "ENST00000398158.5",
"protein_id": "ENSP00000381225.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 551,
"cds_start": 636,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "n.947C>T",
"hgvs_p": null,
"transcript": "ENST00000461686.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "NM_001178008.3",
"protein_id": "NP_001171479.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 551,
"cds_start": 636,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "NM_001178009.3",
"protein_id": "NP_001171480.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 551,
"cds_start": 636,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "NM_001320298.2",
"protein_id": "NP_001307227.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 551,
"cds_start": 636,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.321C>T",
"hgvs_p": "p.Asn107Asn",
"transcript": "NM_001321072.1",
"protein_id": "NP_001308001.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 446,
"cds_start": 321,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Asn229Asn",
"transcript": "XM_011529774.3",
"protein_id": "XP_011528076.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 582,
"cds_start": 687,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Asn229Asn",
"transcript": "XM_047441017.1",
"protein_id": "XP_047296973.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 582,
"cds_start": 687,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Asn229Asn",
"transcript": "XM_047441018.1",
"protein_id": "XP_047296974.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 568,
"cds_start": 687,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.687C>T",
"hgvs_p": "p.Asn229Asn",
"transcript": "XM_047441019.1",
"protein_id": "XP_047296975.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 568,
"cds_start": 687,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "XM_011529777.2",
"protein_id": "XP_011528079.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 565,
"cds_start": 636,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "XM_047441020.1",
"protein_id": "XP_047296976.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 565,
"cds_start": 636,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "XM_047441021.1",
"protein_id": "XP_047296977.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 565,
"cds_start": 636,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "XM_047441022.1",
"protein_id": "XP_047296978.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 565,
"cds_start": 636,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "XM_047441023.1",
"protein_id": "XP_047296979.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 565,
"cds_start": 636,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "XM_047441024.1",
"protein_id": "XP_047296980.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 565,
"cds_start": 636,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "XM_047441025.1",
"protein_id": "XP_047296981.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 565,
"cds_start": 636,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "XM_017028491.3",
"protein_id": "XP_016883980.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 551,
"cds_start": 636,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn",
"transcript": "XM_047441026.1",
"protein_id": "XP_047296982.1",
"transcript_support_level": null,
"aa_start": 212,
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}
],
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"dbsnp": "rs2298758",
"frequency_reference_population": 0.001897008,
"hom_count_reference_population": 68,
"allele_count_reference_population": 850,
"gnomad_exomes_af": 0.00189701,
"gnomad_genomes_af": 0.00072858,
"gnomad_exomes_ac": 850,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 68,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6000000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.783,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000398165.8",
"gene_symbol": "CBS",
"hgnc_id": 1550,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Asn212Asn"
}
],
"clinvar_disease": " CBS-RELATED, THROMBOTIC,CBS-related disorder,Classic homocystinuria,Connective tissue disorder,Familial thoracic aortic aneurysm and aortic dissection,HYPERHOMOCYSTEINEMIA,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Classic homocystinuria|Familial thoracic aortic aneurysm and aortic dissection|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED|Connective tissue disorder|CBS-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}